
NR5A1 Gene - GeneCards | STF1 Protein | STF1 Antibody
2024年12月25日 · NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1) is a Protein Coding gene. Diseases associated with NR5A1 include 46,Xx Sex Reversal 4 and Premature Ovarian …
NR5A1 gene - MedlinePlus
The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. Learn about this gene and related health conditions.
Mutation update for the NR5A1 gene involved in DSD and infertility
NR5A1 mutations are associated with a wide phenotypic spectrum of disorders/differences of sex development (DSD), a group of conditions in which development of chromosomal, gonadal, or …
NR5A1 nuclear receptor subfamily 5 group A member 1 [ (human)]
Four novel mutations in the NR5A1 gene were identified in our cohort with 46, XY DSD, expanding the spectrum of NR5A1 gene mutations. All patients with NR5A1 rare variants had …
Role of NR5A1 Gene Mutations in Disorders of Sex Development: …
This review outlines the role of NR5A1 gene during the process of gonadal development in humans, provides an overview of the molecular and functional characteristics of NR5A1 gene, …
Mutations in NR5A1 Associated with Ovarian Insufficiency
2009年3月19日 · Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a key role for …
New NR5A1 mutations and phenotypic variations of gonadal …
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, …
NR5A1 gene variants (also called mutations) have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete gonadal dysgenesis or 46, XY pure …
NR5A1 Gene Variants: Variable Phenotypes, New Variants ... - PubMed
NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations …
Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in …
Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including …
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